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At least 163 records · Page 9Linked to original sources
PubMed1999

Anesthesia for Freeman-Sheldon syndrome using a laryngeal mask airway.

PURPOSE: To present a case of Freeman-Sheldon syndrome (FSS) with a previously unreported technique of anesthetic management, consisting of a malignant hyperthermia free anesthetic and laryngeal mask airway. CLINICAL FEATURES: Freeman-Sheldon syndrome (also known as whistling face syndrome, Windmill-Vane-Hand syndrome, cranio-carpo-tarsal dysplasia and distal arthrogryposis type 2) is a rare congenital disorder defined by facial and skeletal abnormalities. The three basic abnormalities are microstomia with pouting lips, camptodactyly with ulnar deviation of the fingers and talipes equinovarus. Patients with FSS frequently present for surgical correction of musculoskeletal or facial abnormalities. There are several anesthetic challenges including difficult airway, intravenous cannulation and regional technique. They may be at increased risk for malignant hyperthermia and postoperative pulmonary complications. We present a case of a two-year-old child with FSS undergoing elective unilateral inguinal hernia repair. A non-triggering anesthetic technique was used, consisting of 2 mg x kg(-1) propofol followed by a continuous infusion, nitrous oxide 50%/oxygen, and 3 microg x kg(-1) fentanyl. Intraoperative and postoperative analgesia was provided by an ilioinguinal nerve block with 10 ml bupivacaine 0.25% with epinephrine 1:200,000. The airway was maintained with a #2 laryngeal mask airway. The anesthetic was uneventful and there were no signs or symptoms of malignant hyperthermia. The patient was discharged home later the same day in good health. CONCLUSION: The use of a laryngeal mask airway and non-triggering anesthetic technique should be considered as options for anesthetic management in patients with FSS for short procedures that do not require neuromuscular blockade.

Anesthesia, Inhalation↗
PubMed1997

[Autoantibodies against centrosomes in a patient with limited systemic sclerosis with ulcera cruris and arteriopathy--case report and review of the literature].

A 63 year old woman developed painful, up to 15 x 7 cm large ulcers on both lower limbs and an acral necrosis on the right big toe. The patient had no symptoms of intermittent claudication, but a history of 40 package years of cigarette smoking. Angiography showed circumscript stenosis of medium-sized vessels, deformed vessel segments, and rarification and obstruction of peripheral vessels. Arterial occlusive disease was diagnosed, and percutaneous transluminal angioplasty (PTA) of the right common iliac artery and both femoral arteries performed. However, despite documented patency of these vessels clinical symptoms worsened. The consulting rheumatologist found a history of Raynaud's syndrome, acral necrosis of the fourth finger of the right hand, sclerodactylia, and microstomia. Capillaroscopy revealed megacapillaries and vessel rarification. High titers of antinuclear antibodies with specificity for centrosomes (1:10240), which have not been described in this context to date, were detected and limited systemic sclerosis of the CREST type was diagnosed. Treatment with iloprost (50 micrograms/day i.v.) and pulsed cyclophosphamide (800 mg i.v./month) resulted in almost complete healing of the crural and digital ulcers and a significant reduction of the analgetic medication.

Antibodies, Antinuclear↗
PubMed2005

Tight skin and limited joint movements as early presentation of Hutchinson-Gilford progeria in a 7-week-old infant.

UNLABELLED: We present a 7-week-old male infant with pseudoscleroderma as a primary manifestation of the Hutchinson-Gilford syndrome of premature aging. He had suffered intra-uterine growth retardation; micrognathism and a cleft palate were evident at birth. He presented with feeding difficulties and severe, diffuse scleroderma-like lesions, a faint peri-oral cyanosis and prominent scalp veins. With time, special facial features became more and more apparent: frontal bossing, prominent eyes, thin and fine nose and lips, microstomia, low-set ears and occipito-parietal alopecia. Histopathology of the skin showed an increased density and thickness of collagen in the dermis and hypodermis. Within the 1st year of life, typical skeletal characteristics were observed. The diagnosis of Hutchinson-Gilford syndrome was confirmed by analysis of the lamin A gene, revealing a heterozygous c.1824C > T (G608G) mutation. CONCLUSION: Hutchinson-Gilford syndrome is an extremely rare disorder of which the full clinical spectrum becomes evident with time. Sclerodermatous changes in the infant can be the first manifestation.

Alopecia↗
PubMed1991

A long surviving case of holoprosencephaly agnathia series.

The rare syndrome of the agnathia with microstomia, aglossia, synotia (the external ears approaching one another in the midline) and brain malformation (agnathia-holoprosencephaly) was reported by Pauli et al. (1983) as a developmental field defect. This syndrome has two subgroups. One is more severe with brain malformation (holoprosencephaly), and the other is less severe without brain malformation. This report presents a long surviving case of this syndrome without brain malformation.

Body Height↗
PubMed1979

Oromandibular-limb hypogenesis syndrome: type II C, hypoglossia-hypodactylomelia.

A patient with oromandibular-limb syndrome, Type II C, hypoglossia-hypodactylomelia, is documented and the pertinent literature critically reviewed. In addition to limb and tongue anomalies the patient had hypognathia, microstomia, absent mandicular permanent incisors, and enamel dysplasia. Her unrelated parents and siblings are normal. Past medical history for drug exposure to the mother during pregnancy was negative.

Adult↗
PubMedDate not supplied

Oral and gastrointestinal manifestations of epidermolysis bullosa.

The mouth, oesophagus, and anus are often involved in dystrophic and junctional epidermolysis bullosa, but the frequency is unknown. Among 246 patients with epidermolysis bullosa, dysphagia developed in 76% of those with recessive dystrophic, in 20% of those with dominant dystrophic, in 15% of those with junctional, and in 2% of those with simplex forms. Lingual adhesions or microstomia occurred in dystrophic epidermolysis bullosa only, but were eight times more common in recessive than in dominant subtypes. These lesions are provoked by the trauma of eating and further reduce food intake, which exacerbates constipation caused by anal blisters and results in malnutrition. Management requires specialised multidisciplinary care.

Adolescent↗
PubMed1996

Surgical release for intubation purposes in postburn contractures of the neck.

Postburn contractures of the neck can cause difficult endotracheal intubation when cervical hyperextension and lifting of the mandible are impaired. alternative techniques to direct laryngoscopy may be hampered by the presence of rigid scar tissue which obscures the mandibular and laryngeal anatomy, or by the presence of microstomia following retraction of scar tissue in facial burns. This report describes our experience with a safe and quick surgical neck release to facilitate endotracheal intubation in such cases. Following release, intubation was established at the first attempt in all cases. Patients who have suffered flame burns to the thorax with an ascending involvement of the neck and mandibular region are particularly prone to develop extreme contractures. Problems with intubation should be anticipated in patients with healed burns of the neck, and equipment for aiding intubation should be on hand. Furthermore, the surgeon must be available during the induction of anaesthesia to perform an emergency neck release if necessary.

Adolescent↗
PubMedDate not supplied

Chromosome 22q11.2 microdeletion in a patient with hemophilia A.

We report a 6-year-old patient with hemophilia A, who also exhibited clinical features typical of 22q11.2 deletion syndrome (22qDS). The specific traits were mild mental retardation, speech delay, hypernasal speech, deficits in voice quality and articulation, narrow palpebral fissures, broad and depressed nasal root, high-arched palate, microstomia, and overfolded ears. The patient had no associated congenital cardiac or palatal malformations. It can be particularly difficult to identify this syndrome in newborns and infants without congenital heart defects. This case underlines that microdeletion of chromosome 22q11.2 should be considered in any patient who exhibits typical clinical features of 22qDS, regardless of whether they have another single-gene disorder.

Bone Diseases↗
PubMed2006

Corrosive injury of oral cavity--a rare presentation.

Corrosive injury of the upper gastrointestinal tract has been frequently reported in medical literature. The ingestion of acid or alkali may be accidental or intentional. The spectrum of injury varies from involving the oesophagus, stomach, and duodenum either individually or together. The oral cavity is rarely involved. The sequelae of oral cavity caustic injury that have been reported include microstomia, shallow vestibule, ankyloglossia, speech impairment, loss of teeth and impairment of facial expression. We report a case of corrosive injury of the oral cavity following accidental ingestion of caustic alkali, who presented to us with bilateral submandibular gland enlargement following the development of corrosive stricture of the submandibular ducts. The scar tissue in the anterior floor mouth was excised with the submandibular salivary glands. Concomitant release of the contracture in the gingivo-buccal sulcus was also done and the defect was covered with a radial forearm free flap. The presentation of corrosive oral injury as salivary duct obstruction and enlarged salivary glands has not been reported. Free tissue transfer for corrosive scarring in the oral cavity helps to restore pliable tissue.

Adult↗
PubMed2005

Lip and perioral reconstruction.

For defects up to approximately 80% of either upper or lower lip, reconstructions that use remaining lip and cheek can function and look reasonably well. Free tissue transfers, such as the free radial forearm flap, are useful for larger defects as they import additional tissue in one step and reduce microstomia, which is more likely to result from local tissue repairs. At best, free flaps provide a static dam or curtain that functions as a lip; at worst, they deliver a large amount of composite tissue to allow for primary healing. Satisfactory outcomes after free flap reconstructions for lip are best achieved when the transferred tissue is integrated with the native tissues by suspending free flaps appropriately, resurfacing with the flaps with vermilion substitutes, and judicious interposition of remaining lip segments.

Face↗
PubMed2003

A sectional stock tray system for making impressions.

This article describes a sectional stock tray system developed by the authors for making preliminary impressions. It may be used not only for individual dental arches but also for patients with microstomia or constricted oral openings. This system allows many combinations of right and left tray sizes and forms to be assembled into a well-fitted anatomically-conforming tray in spite of individual anatomic discrepancies.

Dental Arch↗
PubMed1987

[10 congenital trigger fingers. Apropos of a case report].

Ten congenital triggers fingers have been treated on a 3 years old girl after correction of congenital bilateral club feet. Such a case, without any other congenital malformation seems to be unique in the French literature and only found twice in the English one. This child in spite of a normal growth and good psychomotor development, presents an unusual face, with a mouth a little bit too small, but her karyotype is normal. No trismus and no microstomia were found to enable this case to be classified in a specific syndrome. The right diagnosis may be a non evolutive arthrogryposis of the extremities. Dividing the ten proximal pulleys (A1) let 10 voluminous nodules pass through and allowed full range of motion in nine out of ten fingers. A remaining flexion deformity of the proximal interphalangeal joint needed an anterior arthrolysis, the final result was good.

Abnormalities, Multiple↗
PubMedDate not supplied

Retinoic acid-induced asymmetric craniofacial growth and cleft palate in the TO mouse fetus.

The etiology and pathogenetic mechanisms of cleft palate (CP) are rather uncertain. Both genetic and environmental factors are known to cause failure of horizontalization and/or failure of fusion of the palatal shelves resulting in CP. Retinoic acid (RA)-induced CP in the mouse is reported to exhibit two peaks of incidence separated by a less sensitive window. The morphologic bases of the differential sensitivity are not known. The objectives of this study were to determine whether the TO mouse had similar peaks of sensitivity to RA-induced CP, and if it did, to evaluate the morphologic and histologic bases of CP induced at an early [Gestation Day (GD) 8] and at a late (GD 12) stage of embryonic development. Single doses of all-trans-RA were administered to groups of mice on one of GD 8 to 15. On GD 18, fetuses were evaluated for the presence of CP, and the developmental stage of the palatal shelves was determined. All doses of RA were found to induce a high incidence of CP in the GD 8 to 13 treatment groups. GD 14 and 15 were not susceptible. There were no stage-dependent peaks or less sensitive windows, indicating that RA-induced CP in this strain is a continuum from GD 8 through 13. Morphologically clefting in the GD 8-RA treatment group was characterized by extreme hypoplasia (65% to 100%, depending on the dose) or agenesis (35% in the 200 mg/kg group) of the palatal shelves and associated with astomia, microstomia, aglossia, microglossia, and micrognathia with fusion of mandible, maxilla, and zygoma. Treatment on subsequent days of gestation resulted in CP with the shelves reaching progressively higher levels of maturity in terms of developmental staging. There was no case of CP with horizontalized shelves apposing but failing to fuse with each other. The facial skeleton of GD 12-RA group was hypoplastic but not malformed. Reduction in all dimensions of the cranium and mandible was highly significant (P < 0.001) in the GD 8-RA group, whereas there was a clear imbalance between the vertical growth and that in other directions in the GD 12-RA group. The CR length, head and body weights, and the protein content of heads of GD 8-RA-treated embryos were significantly reduced. Histologic studies showed that both the intrinsic and extrinsic muscles of the tongue and face, growth of the Meckel's cartilage, and ossification of the mandible were severely affected in the GD 8 treatment group, whereas these tissues were only moderately affected in the embryos of the GD 12-RA group. However, the quality of cytodifferentiation of the muscles was not affected in either group. These data provide evidence for the susceptibility continuum of CP in this strain. They also indicate that agenesis and hypoplasia of the palatal shelves and primordia of craniofacial skeleton and musculature contribute to CP, the relative involvement of the components depending on the stage of drug administration. In the absence of pronounced cell death, it appears that RA possibly produces its deleterious effects on the precursors of craniofacial primordia, such as the neural crest, by misexpression of developmentally important genes.

Animals↗
PubMed2002

Moebius syndrome with oral involvement.

The oral findings of 12 patients with Moebius syndrome are described. Facial weakness, hypoplastic upper lip, microstomia, mouth-angle drooping, hypoplasia of mandible, gothic palate, tongue weakness, fissured tongue, tongue atrophy and open bite were found. In addition to describing the oral findings, this report discusses some implications for dental treatment of patients with this syndrome.

Child↗
PubMed1998

Prenatal diagnosis of otocephaly using two-dimensional and three-dimensional ultrasonography.

We report a case of the prenatal diagnosis of a very rare anomaly, namely isolated otocephaly, using two-dimensional and three-dimensional ultrasound at 24 weeks of gestation. Two-dimensional ultrasound revealed polyhydramnios, absence of a stomach shadow, hypotelorism and a proboscis-like mass. Three-dimensional ultrasound gave a precise demonstration of the striking craniofacial features of otocephaly including agnathia, synotia, microstomia and protuberance of the nose-mouth fusion. The use of three-dimensional ultrasound provided a whole view of the very rare lethal malformation in utero and contributed significantly to prenatal diagnosis.

Abortion, Legal↗
PubMed2002

Reconstruction of the labiomental region with local flaps.

BACKGROUND: Reconstruction of the labiomental area presents certain difficulties, especially in the assessment and selection of the incision lines to obtain the best cosmetic result. Among the factors influencing the selection of a reconstruction technique are the presence of natural folds and creases, skin laxity, and the size, shape, and orientation of the wound. Many operative techniques have been described for the reconstruction of this region. OBJECTIVE: To describe a combination of reconstruction techniques which restore the form, preserve sensation, and provide function of the labiomental region after ablative surgery. METHODS: We present two patients with reconstruction of the labiomental area where it was possible to preserve the vermilion of the lower lip after wide excision. The method of reconstruction constitutes a of modification of the Bernard method and Schuchardt procedure. RESULTS: Satisfactory results were obtained with preservation of the sensitivity of the lower lip, competent lip seal, and avoidance of microstomia, in addition to a good aesthetic appearance. CONCLUSION: The described technique is a preferable technique in patients for whom vermilion of the lower lip should be preserved after wide excision. The technique restores the form, preserves sensation, and provides function-the principles of a successful reconstruction.

Adult↗
PubMedDate not supplied

[Opitz-trigonocephaly syndrome--a characteristic dysmorphia-retardation syndrome of unclear origin].

Report on a patient with Opitz-Trigonocephaly-Syndrome who was diagnosed at the age of ten months. He had a trigonocephaly and multiple other stigmata including oblique orbital fissures, internal strabism, high and narrow palate with broad alveolar ridges, microstomia, large dysplastic ears, nuchal cutis laxa, broad clumsy fingers. Additionally he had a ventricular septal defect, was dystrophic and developmentally retarded. Chromosomal analysis was normal. A sister that was recently born showed no dysmorphic signs. So far, 24 cases have been reported in the literature. This is the 5th patient in Germany.

Abnormalities, Multiple↗
PubMed2003

Adjunctive commissure splint therapy: a revised approach.

The management of trauma to the commissures has been an ongoing challenge for the medical and dental professions. Multiple surgical and prosthetic approaches have been used. Commissure splint therapy is often effective in association with surgery in reducing the effects of scar contraction that ultimately results in microstomia and reduced quality of life. This article describes methods of fabrication of the commissure splint appliance, the rationale for its modification, advantages, and disadvantages.

Acrylic Resins↗